Results 141 to 150 of about 1,564 (152)

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

Genes, 2020
Virginie G Peter, Carlo Rivolta, Andrea Superti-Furga   +2 more
exaly  

RZooRoH: An R package to characterize individual genomic autozygosity and identify homozygous‐by‐descent segments

Methods in Ecology and Evolution, 2019
Mathieu Gautier, Naveen Kadri, Laurence Flori   +2 more
exaly  

Autozygosity Mapping

2008
openaire   +1 more source

Whole exome sequencing of schizophrenia patients with high level of autozygosity.

2014
Despite an estimated heritability up to 80% the genetic architecture of schizophrenia (SZ) remains unclear. Only about 32% of the genetic variability of schizophrenia has been attributed to common susceptibility alleles, this implying that other genetic factors are involved, as demonstrated by the identification of rare copy number variants (CNV) in ...
MAGRI, Chiara, GIACOPUZZI, Edoardo, VALSECCHI, Paolo, TRAVERSA, Michele, GARDELLA, Rita, BORSANI, Giuseppe, BARLATI, Sergio, SACCHETTI, Emilio, GENNARELLI, Massimo   +8 more
openaire   +3 more sources

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

Human Mutation, 2006
Ian Carr
exaly  

Autozygosity Mapping with Exome Sequence Data

Human Mutation, 2013
Graeme Black, Ian Carr, Hanan Shamseldin   +2 more
exaly  

SCAMP: a spreadsheet to collate autozygosity mapping projects.

Journal of medical genetics, 2005
T, Forshew, C A, Johnson
openaire   +1 more source

A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping

Journal of Neurogenetics, 2016
Zohreh Sharifi, Marzieh Mojbafan, Javad Tavakkoly-Bazzaz   +2 more
exaly  

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders

Human Mutation, 2009
Katarzyna Szymanska, Ian Carr, Colin Johnson   +2 more
exaly  

Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project

American Journal of Human Genetics, 2018
Zachary A Szpiech, Trevor Pemberton
exaly